Metaphyseal Dysplasia, Spahr Type

Alternative Names

  • MDST
  • Metaphyseal Chondrodysplasia, Spahr Type
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

250400

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q22.2

Description

MDST is a rare congenital condition characterized by a short stature and a mild form of metaphyseal dysplasia affecting the bones that apparently improves with age. Motor milestones are delayed, and the lower limbs are disproportionately short. 

Mutations in the MMP13 gene are known to result in this condition. 

Epidemiology in the Arab World

View Map

Other Reports

Lebanon

Megarbane et al (2008) reported a consanguineous kindred in which six members were affected with MDST. Molecular analysis in this family excluded both the RMRP and COL10A1 genes. 

© CAGS 2024. All rights reserved.